From the Department of Clinical Neurological Sciences (S.A., Y.-C.C., A.B., J.M.R.), London Health Sciences Centre, Schulich Medicine and Dentistry, Western University; and Pathology and Laboratory Medicine (A.B.), Schulich Medicine and Dentistry, Western University, London, Ontario, Canada.
Neurology. 2022 Jul 4;99(1):31-35. doi: 10.1212/WNL.0000000000200712.
A 40-year-old woman was admitted for 6 months of progressive gait disturbance, lower limb-predominant weakness, stiffness, falls, jaw dystonia, horizontal diplopia, and weight loss. Neurologic examination revealed horizontal gaze paresis, limited jaw opening with palpable masseter hypertrophy, and spastic paraparesis with sustained clonus and upgoing plantar responses. MRI revealed T2-hyperintense signal abnormalities in the dorsal pons, medulla, and upper cervical cord central gray matter extending to C3, without gadolinium enhancement. CSF showed mildly elevated protein and immunoglobulin (IgG) index with CSF-specific oligoclonal bands. Neural autoantibody testing was positive for anti-Ri in CSF and serum by mouse brain indirect immunofluorescence and immunoblot. Testing for aquaporin-4 (AQP4)-IgG and myelin oligodendrocyte glycoprotein (MOG)-IgG by cell-based assay was negative. The patient received methylprednisolone 1 g for 5 days and IV immunoglobulin 2 g/kg over 2 days with prednisone taper and botulinum toxin injections for jaw dystonia. PET-CT revealed an enlarged left axillary lymph node with high FDG uptake. Left axillary lymph node biopsy confirmed high-grade, locally invasive breast adenocarcinoma. Neurologic stabilization was documented at 2-week follow-up after hospital discharge before modified radical mastectomy. Our case demonstrates a clinical triad highly suggestive of anti-Ri-associated paraneoplastic neurologic syndrome (Ri-PNS): gait instability, jaw dystonia, and horizontal gaze paresis. The more slowly progressive course and poor response to immunotherapy help distinguish it from AQP4-IgG-seropositive neuromyelitis optica spectrum disorder (NMOSD) and MOG-IgG-associated disease (MOGAD) that share similar radiographic features. Early diagnosis, prompt immunotherapy, and cancer treatment are paramount for disease stabilization.
一位 40 岁女性因进行性步态障碍、下肢为主的无力、僵硬、跌倒、下颌痉挛、水平复视和体重减轻而入院。神经系统检查显示水平凝视麻痹、张口受限伴可触及的咬肌肥大、痉挛性截瘫伴持续阵挛和上翘的跖反射。MRI 显示背侧脑桥、延髓和上颈髓中央灰质 T2 高信号异常，延伸至 C3，无钆增强。CSF 显示轻度升高的蛋白和免疫球蛋白（IgG）指数，伴有 CSF 特异性寡克隆带。神经自身抗体检测显示 CSF 和血清中抗 Ri 阳性，采用鼠脑间接免疫荧光和免疫印迹法。细胞基础检测抗水通道蛋白-4（AQP4）-IgG 和髓鞘少突胶质细胞糖蛋白（MOG）-IgG 均为阴性。患者接受甲基强的松龙 1 g 静脉滴注 5 天，静脉注射免疫球蛋白 2 g/kg 静脉滴注 2 天，泼尼松龙减量和肉毒毒素注射治疗下颌痉挛。PET-CT 显示左侧腋窝淋巴结肿大，FDG 摄取增高。左侧腋窝淋巴结活检证实为高级别、局部侵袭性乳腺腺癌。在改良根治性乳房切除术之前，在出院后 2 周的随访中记录到神经功能稳定。我们的病例展示了一个高度提示抗 Ri 相关副肿瘤性神经综合征（Ri-PNS）的临床三联征：步态不稳、下颌痉挛和水平凝视麻痹。更缓慢的进展过程和免疫治疗反应不佳有助于将其与 AQP4-IgG 阳性视神经脊髓炎谱系障碍（NMOSD）和 MOG-IgG 相关疾病（MOGAD）区分开来，这两种疾病具有相似的影像学特征。早期诊断、及时免疫治疗和癌症治疗对于稳定疾病至关重要。
